Atrial septal defect, Atrioventricular canal defect, Babinski sign, Brachycephaly, Brachydactyly, Broad forehead, Chorioretinal coloboma, Cleft palate, Clonus, Coloboma, Dandy-Walker malformation, Decreased response to growth hormone stimulation test, Degeneration of the lateral corticospinal tracts, Depressed nasal bridge, Difficulty walking, Double outlet right ventricle, Downslanted palpebral fissures, Ectopic anus, Facial hemangioma, Failure to thrive, Feeding difficulties in infancy, Finger syndactyly, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Glaucoma, Global developmental delay, Hand polydactyly, Hemivertebrae, High forehead, High, narrow palate, Hydrocephalus, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypoplasia of penis, Hypoplastic fingernail, Hypoplastic left heart, Hypospadias, Hypotonia, Impaired vibration sensation in the lower limbs, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Iris coloboma, Kyphosis, Limb ataxia, Limb dysmetria, Low posterior hairline, Low-set ears, Lower limb muscle weakness, Lower limb spasticity, Macrocephaly, Micrognathia, Missing ribs, Muscle spasm, Neurological speech impairment, Optic atrophy, Orofacial cleft, Peroneal muscle atrophy, Pes cavus, Posterior fossa cyst, Preauricular skin tag, Progressive pes cavus, Progressive spastic paraplegia, Prominent occiput, Pulmonic stenosis, Recurrent respiratory infections, Scoliosis, Short neck, Short nose, Short stature, Single umbilical artery, Spastic gait, Spastic paraplegia, Spinal cord lesion, Syndactyly, Tetralogy of Fallot, Upper limb spasticity, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge